Linked Data
ClinVar Variation Id:
335406
dbSNP Id:
rs764006338
ExAC:
2:26502084 C / T
gnomAD v2:
2-26502084-C-T
gnomAD v3:
2-26279216-C-T
gnomAD v4:
2-26279216-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26279216C>T , CM000664.2:g.26279216C>T | GRCh38 |
| NC_000002.11:g.26502084C>T , CM000664.1:g.26502084C>T | GRCh37 |
| NC_000002.10:g.26355588C>T | NCBI36 |
| NG_007294.1:g.39264C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317799.10:c.712C>T MANE Select | ENSP00000325136.5:p.Arg238Trp | |
| ENST00000317799.9:c.712C>T | ENSP00000325136.5:p.Arg238Trp | |
| ENST00000405867.7:c.443-778C>T | ENSP00000385411.3:n.443-778C>T | |
| ENST00000494615.1:n.1659C>T | ||
| ENST00000537713.5:c.667C>T | ENSP00000444295.1:p.Arg223Trp | |
| ENST00000545822.2:c.646C>T | ENSP00000442665.1:p.Arg216Trp | |
| NM_000183.2:c.712C>T | NP_000174.1:p.Arg238Trp | |
| NM_001281512.1:c.667C>T | NP_001268441.1:p.Arg223Trp | |
| NM_001281513.1:c.646C>T | NP_001268442.1:p.Arg216Trp | |
| XM_011532803.1:c.712C>T | XP_011531105.1:p.Arg238Trp | |
| XM_011532804.1:c.646C>T | XP_011531106.1:p.Arg216Trp | |
| XM_024452830.1:c.682C>T | XP_024308598.1:p.Arg228Trp | |
| XM_024452831.1:c.646C>T | XP_024308599.1:p.Arg216Trp | |
| NM_000183.3:c.712C>T MANE Select | NP_000174.1:p.Arg238Trp | |
| NM_001281513.2:c.646C>T | NP_001268442.1:p.Arg216Trp | |
| NM_001281512.2:c.667C>T | NP_001268441.1:p.Arg223Trp |